ENG rs755348996: Understanding This Rare Genetic Variant
The rs755348996 variant is a rare genetic change located within the ENG gene. It has been identified in clinical studies and is associated with hereditary hemorrhagic telangiectasia (HHT), a condition affecting blood vessel formation.
What each genotype means
Common reference genotype
This is the most frequently observed genotype at this position in the human population. It is considered the reference sequence for the ENG gene in this location.
This is the most common genotype found across all major global populations.
Rare variant genotype
This genotype represents a rare variation in the ENG gene. Clinical significance for this specific change is currently limited, and it is not definitively linked to specific health outcomes in the general population.
This genotype is extremely rare and is observed in a very small fraction of the global population.
Rare heterozygous genotype
You carry one copy of the common reference allele and one copy of the rare variant allele. The functional impact of this specific heterozygous state is not well-characterized in current scientific literature.
This genotype is rare, appearing in a very small percentage of individuals across studied ancestries.
Rare variant genotype
This genotype represents a rare variation in the ENG gene. As with other rare variants at this locus, there is insufficient evidence to suggest a specific clinical phenotype or health risk associated with this genotype.
This genotype is extremely rare and is found in a negligible portion of the population.
What is rs755348996?
The identifier rs755348996 refers to a specific single nucleotide polymorphism (SNP) located on chromosome 9. In the context of human genetics, a SNP represents a variation at a single position in the DNA sequence. This particular variant is situated within the ENG gene, which provides instructions for making a protein called endoglin. Because this variant is rare, it is not typically found in the general population at high frequencies. Geneticists study such variants to understand how changes in the DNA sequence might alter protein function or contribute to specific health conditions. When a variant is identified in a clinical setting, researchers often investigate whether it disrupts the normal biological processes governed by the gene in which it resides.
The Role of the ENG Gene
The ENG gene encodes the endoglin protein, which is primarily found on the surface of cells that line blood vessels, known as endothelial cells. Endoglin plays a critical role in the transforming growth factor-beta (TGF-beta) signaling pathway, which is essential for the development and maintenance of the cardiovascular system. Specifically, it helps regulate the formation of blood vessels and the integrity of the vessel walls. When the ENG gene is altered, the resulting endoglin protein may not function correctly, which can lead to structural abnormalities in blood vessels. These abnormalities are the hallmark of hereditary hemorrhagic telangiectasia (HHT), a disorder characterized by fragile blood vessels that are prone to bleeding. Understanding the function of endoglin is key to grasping why variants in this gene are clinically significant.
Clinical Associations and Evidence
Research has associated variants in the ENG gene, including rs755348996, with hereditary hemorrhagic telangiectasia type 1 (HHT1). Clinical databases, such as ClinVar, have classified certain variants in this gene as pathogenic or likely pathogenic, meaning there is evidence suggesting they contribute to the development of the condition. The evidence for rs755348996 is considered moderate, often derived from clinical genetic testing of individuals presenting with symptoms of HHT. It is important to note that the presence of a variant does not guarantee the development of a disease, as genetic expression can be influenced by other factors. Clinical geneticists use this information to help interpret test results for patients, but such findings should always be discussed with a qualified healthcare provider who can provide context based on an individual's full medical history and symptoms.
Population Frequency
The rs755348996 variant is classified as rare across global populations. Data from large-scale genomic projects like gnomAD indicate that this variant appears at very low frequencies, often less than 0.1% in most studied groups. For instance, some datasets have reported an allele frequency of approximately 0.11% in South Asian populations, while it remains largely absent or extremely rare in other major ancestry groups. Because the variant is so uncommon, it is not considered a typical polymorphism found in the general public. Its rarity is a significant factor in clinical interpretation, as rare variants are more likely to be investigated for potential links to specific rare diseases rather than common traits. Researchers continue to aggregate data to better understand the distribution of such variants across diverse human ancestries.
Navigating Genetic Information
If you have received information about the rs755348996 variant through genetic testing, it is essential to approach this data with professional guidance. Genetic information is complex, and the clinical significance of a variant can change as more research becomes available. You cannot use this information to self-diagnose or predict health outcomes on your own. If this variant was identified in a clinical report, it is recommended that you consult with a genetic counselor or a medical specialist, such as a cardiologist or vascular specialist, to understand what it means for your health. They can help interpret the findings in the context of your personal and family medical history. Always rely on qualified healthcare professionals for medical advice and never make changes to your health management based solely on genetic data found online.
How common is this variant?
The rs755348996 variant is rare, with an allele frequency of approximately 0.11% in South Asian populations and even lower frequencies in other global groups.
Frequently asked questions
What is the ENG gene?
The ENG gene provides instructions for making the endoglin protein, which is vital for the development and maintenance of blood vessels. Mutations in this gene are known to cause hereditary hemorrhagic telangiectasia (HHT).
Is rs755348996 dangerous?
The variant is associated with HHT, a condition that can cause bleeding issues due to fragile blood vessels. Whether it poses a risk depends on individual clinical context, which should be reviewed by a doctor.
How common is this variant?
This variant is very rare in the general population. It is not a common genetic trait and is typically only identified through specialized clinical genetic testing.
Should I be worried if I have this variant?
Finding a rare variant does not automatically mean you have a disease. You should discuss any genetic test results with a genetic counselor or physician who can interpret the findings based on your health history.
Sources & further reading
Educational information only, last refreshed 10/1/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Genetic variant identified in the ENG gene, relevant for clinical screening of vascular disorders.
A known pathogenic mutation in the ENG gene linked to vascular malformations.
Pathogenic variant in the ENG gene associated with hereditary hemorrhagic telangiectasia type 1.
A variant in the ENG gene potentially impacting protein function related to vascular development.
This variant is located within the ENG gene, which is associated with hereditary hemorrhagic telangiectasia.
Clinically significant variant in the ENG gene associated with hereditary hemorrhagic telangiectasia.